{"id":1642,"date":"2021-06-27T16:24:54","date_gmt":"2021-06-27T16:24:54","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1642"},"modified":"2026-02-23T21:17:19","modified_gmt":"2026-02-23T21:17:19","slug":"loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/06\/27\/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state\/","title":{"rendered":"Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in bi-allelic state (Contributed by Dr. Knut Brockmann)"},"content":{"rendered":"<p>The <em>DNM1<\/em> gene encodes dynamin-1, a protein playing an important role in signal transduction from one neuron to another. This neuronal communication uses release of neurotransmitters stored in vesicles beneath the neuronal membrane. Dynamin-1 induces membrane constriction subsequently resulting in vesicle fission from the membrane.<\/p>\n<p>Missense variants in <em>DNM1<\/em> were found to be associated with developmental and epileptic encephalopathies, but only mono-allelic variants were reported. We detected bi-allelic loss-of-function variants in <em>DNM1<\/em> in two unrelated patients with a severe neurodevelopmental disorder.<\/p>\n<p>This is a further example of a gene in which the type of mutation and its functional effect determine the inheritance pattern and phenotypic outcome of the disease. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/06\/25\/jmedgenet-2021-107769\">https:\/\/jmg.bmj.com\/content\/early\/2021\/06\/25\/jmedgenet-2021-107769<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The DNM1 gene encodes dynamin-1, a protein playing an important role in signal transduction from one neuron to another. This neuronal communication uses release of neurotransmitters stored in vesicles beneath the neuronal membrane. Dynamin-1 induces membrane constriction subsequently resulting in vesicle fission from the membrane. Missense variants in DNM1 were found to be associated with [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/06\/27\/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1642","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in bi-allelic state (Contributed by Dr. Knut Brockmann) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/06\/27\/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in bi-allelic state (Contributed by Dr. Knut Brockmann) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The DNM1 gene encodes dynamin-1, a protein playing an important role in signal transduction from one neuron to another. This neuronal communication uses release of neurotransmitters stored in vesicles beneath the neuronal membrane. Dynamin-1 induces membrane constriction subsequently resulting in vesicle fission from the membrane. Missense variants in DNM1 were found to be associated with [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/06\/27\/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-06-27T16:24:54+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T21:17:19+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in bi-allelic state (Contributed by Dr. Knut Brockmann)\",\"datePublished\":\"2021-06-27T16:24:54+00:00\",\"dateModified\":\"2026-02-23T21:17:19+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state\\\/\"},\"wordCount\":139,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state\\\/\",\"name\":\"Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in bi-allelic state (Contributed by Dr. Knut Brockmann) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in bi-allelic state (Contributed by Dr. Knut Brockmann) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2021\/06\/27\/loss-of-function-variants-in-dnm1-cause-a-specific-form-of-developmental-and-epileptic-encephalopathy-only-in-bi-allelic-state\/","og_locale":"en_US","og_type":"article","og_title":"Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in bi-allelic state (Contributed by Dr. Knut Brockmann) - JMG Contact blog","og_description":"The DNM1 gene encodes dynamin-1, a protein playing an important role in signal transduction from one neuron to another. 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